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NM_138691.3(TMC1):c.15dup (p.Val6fs) AND Autosomal recessive nonsyndromic hearing loss 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000225071.1

Allele description [Variation Report for NM_138691.3(TMC1):c.15dup (p.Val6fs)]

NM_138691.3(TMC1):c.15dup (p.Val6fs)

Gene:
TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q21.13
Genomic location:
Preferred name:
NM_138691.3(TMC1):c.15dup (p.Val6fs)
HGVS:
  • NC_000009.12:g.72648663dup
  • NG_008213.1:g.131863dup
  • NM_138691.3:c.15dupMANE SELECT
  • NP_619636.2:p.Val6fs
  • NC_000009.11:g.75263579dup
  • NM_138691.2:c.15dupA
Protein change:
V6fs
Links:
dbSNP: rs878853229
NCBI 1000 Genomes Browser:
rs878853229
Molecular consequence:
  • NM_138691.3:c.15dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 7
Synonyms:
DEAFNESS, AUTOSOMAL RECESSIVE 11; Deafness, autosomal recessive 7
Identifiers:
MONDO: MONDO:0010967; MedGen: C1832978; Orphanet: 90636; OMIM: 600974

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281988Laboratory of Prof. Karen Avraham, Tel Aviv University
no assertion criteria provided
Pathogenic
(Feb 16, 2016) 		germlineresearch

Description

NSHL; recessive, DFNB7

SCV000281988

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV000281988.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Congenital, profound HL

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022